Effect of C677T Methylenetetrahydrofolate Reductase Gene Polymorphism on Plasma
Homocysteine Levels in Ethnic Groups
J. GAŠPAROVIČ, K. RAŠLOVÁ, Z. BAŠISTOVÁ1, M. ZACHAROVÁ1, L. WSÓLOVÁ, M.
AVDIČOVÁ2, P. BLAŽÍČEK3, J. LIETAVA4, D. SIVÁKOVÁ1
Institute of Preventive and Clinical Medicine, 1Department of Anthropology,
Faculty of Natural Sciences, Comenius University, 2State Institute of Health,
Banská Bystrica, 3Military Hospital, 4Department of Medicine Teaching Hospital,
Bratislava, Slovak Republic
Received August 22, 2002
Accepted May 12, 2003
The objective of this study was to examine plasma homocysteine levels and C677T
methylenetetrahydrofolate reductase (MTHFR) gene polymorphism in two ethnic
groups from Slovakia. The samples consisted of general Slovak-Romany population
(68 men and 81 women) from Southwestern Slovakia and the Slovak-Caucasians (174
men and 177 women) who participated in the CINDI project. The homocysteine
levels were examined by HPLC, the analysis of MTHFR genotypes was done by PCR.
The Slovak-Romany men (12.0±5.6 (S.D.) μmol/l) and women (9.2±2.6 μmol/l) have
significantly lower plasma homocysteine levels (p<0.024 and p<0.00001) when
compared to Caucasians (13.3±5.1 μmol/l in men and 11.3±4.3 μmol/l in women).
The genetic equilibrium is assumed for the gene frequencies of the MTHFR
polymorphism in both samples. The distribution of MTHFR genotypes did not differ
between the two populations (TT 13 vs. 10.6 %; CT 46.6 vs. 41.7 %; CC 40.4 vs.
47.7%, zeta2 = 2.315, df=2, ns). The effect of MTHFR genotypes on homocysteine
levels was not confirmed in the Slovak-Romanies and TT homozygosity
significantly increased plasma homocysteine levels only in Slovak-Caucasians
ns; vs. 14.8±4.8 mmol/l, p<0.002, respectively). To our
knowledge, this is the first epidemiological study in the Romany population
examining distribution of the MTHFR genotypes and their effect on homocysteine
levels. Further studies are needed to establish the variety of cardiovascular
risk factors among Romanies in order to evaluate the significance of particular